Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29779606C>G , CM000678.2:g.29779606C>G | GRCh38 |
| NC_000016.9:g.29790927C>G , CM000678.1:g.29790927C>G | GRCh37 |
| NC_000016.8:g.29698428C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400752.6:c.157C>G MANE Select | ENSP00000383563.4:p.Arg53Gly | |
| ENST00000400752.5:c.157C>G | ENSP00000383563.4:p.Arg53Gly | |
| NM_152338.3:c.157C>G | NP_689551.2:p.Arg53Gly | |
| XM_011545921.1:c.157C>G | XP_011544223.1:p.Arg53Gly | |
| XM_011545921.2:c.157C>G | XP_011544223.1:p.Arg53Gly | |
| NM_152338.4:c.157C>G MANE Select | NP_689551.3:p.Arg53Gly |